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In April 2013, the CCNE published an opinion (No. 120) on the "ethical issues associated with the development of foetal genetic testing on maternal blood". The committee emphasised that this was the first stage in a wider reflection on all the issues associated with the widespread use of high-throughput DNA sequencing and its medical and societal implications.

In this opinion, the CCNE observed that, in the near future, it could be technically simpler, and undoubtedly less costly, to carry out whole genome sequencing than to select short regions of interest and carry out targeted sequencing. This development can and should be the subject of a progress report today. Identifying a mutation or anomaly in the genome (of a chromosome, for example) at the origin of a disease is a first step that is both scientifically and medically necessary in order to meet the expectations of families affected by a disease of genetic origin ("naming the disease" is part of the therapeutic plan). It also makes it possible to foresee, in the medium or long term, the possibility of treating or even curing genetic diseases or diagnosed disabilities.

Genomics, in the age of very high-speed DNA sequencing, is helping to set up gigantic databases on people's health ("big data"), which represent considerable ethical challenges, particularly in terms of the right to privacy. On the other hand, the growing knowledge and understanding of the genome opens the way to increasingly specific and sophisticated methods of intervention on human DNA, which is not without raising vast ethical questions both in the field of somatic cells (cellular gene therapy) and that of reproductive cells or the embryo (germline gene therapy). The Committee has already begun to reflect on these two aspects, but has decided to devote this opinion to the development of genetic testing made possible by very high throughput DNA sequencing.

Situated at the crossroads of fundamental research and clinical medicine, the technical progress made and being made in the field of human genomics raises questions about many aspects of our personal, family and collective lives. The CCNE is proposing an upstream reflection on the conditions required for a regulatory system to be effective and respectful of individuals.